%0 Journal Article
%T The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis
%A Gessica Truglio
%A Giampiero Ferraguti
%A Giancarlo Testino
%A Marco Lucarelli
%A Roberto Strom
%A Sabina M. Bruno
%A Serena Quattrucci
%A Silvia Pierandrei
%J The Journal of Molecular Diagnostics
%D 2016
%R 10.1016/j.jmoldx.2016.02.007
%X More than 2000 sequence variations of the cystic fibrosis transmembrane conductance
regulator gene are known. The marked genetic heterogeneity, poor functional characterization
of the vast majority of sequence variations, and an uncertain genotype-phenotype relationship
complicate the definition of mutational search strategies. We studied the effect of
the marked genetic heterogeneity detected in a case series comprising 610 patients
of cystic fibrosis (CF), grouped in different clinical macrocategories, on the operative
characteristics of the genetic test designed to fully characterize CF patients.
%U https://jmd.amjpathol.org/article/S1525-1578(16)30030-7/fulltext